T42S (p.Thr42Ser) variant of TNFAIP3 (P21580)
T42S (p.Thr42Ser) in TNFAIP3 (P21580) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T42S (p.Thr42Ser) variant details
- p.Thr42Ser
- rs370854824
- ClinGen CA4019350
- ClinVar RCV002953425
- ClinVar RCV005281268
- Benign/Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- MetaLR 0.03
- MetaSVM -1.05
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00039)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)